Review
doi: 10.1002/humu.1380060102.Mutations in muscle phosphofructokinase gene
Affiliations
- PMID:7550225
- DOI: 10.1002/humu.1380060102
Item in Clipboard
Review
Mutations in muscle phosphofructokinase gene
N Raben et al. Hum Mutat.1995.
Display options
Format
Display options
Format
Abstract
Mutations in the muscle phosphofructokinase gene (PFK-M) result in a metabolic myopathy characterized by exercise intolerance and compensated hemolysis. PFK deficiency, glycogenosis type VII (Tarui disease) is a rare, autosomal, recessively inherited disorder. Multiple mutations, including splicing defects, frameshifts, and missense mutations, have recently been identified in patients from six different ethnic backgrounds establishing genetic heterogeneity of the disease. There is no obvious correlation between the genotype and phenotypic expression of the disease. PFK-M deficiency appears to be prevalent among people of Ashkenazi Jewish descent. Molecular diagnosis is now feasible for Ashkenazi patients who share two common mutations in the gene; the more frequent is an exon 5 splicing defect, which accounts for approximately 68% of mutant alleles in this population.
Similar articles
- Various classes of mutations in patients with phosphofructokinase deficiency (Tarui's disease).Raben N, Sherman JB, Adams E, Nakajima H, Argov Z, Plotz P.Raben N, et al.Muscle Nerve Suppl. 1995;3:S35-8. doi: 10.1002/mus.880181409.Muscle Nerve Suppl. 1995.PMID:7603525
- Glycogenosis type VII (Tarui disease) in a Swedish family: two novel mutations in muscle phosphofructokinase gene (PFK-M) resulting in intron retentions.Nichols RC, Rudolphi O, Ek B, Exelbert R, Plotz PH, Raben N.Nichols RC, et al.Am J Hum Genet. 1996 Jul;59(1):59-65.Am J Hum Genet. 1996.PMID:8659544Free PMC article.
- Common mutations in the phosphofructokinase-M gene in Ashkenazi Jewish patients with glycogenesis VII--and their population frequency.Sherman JB, Raben N, Nicastri C, Argov Z, Nakajima H, Adams EM, Eng CM, Cowan TM, Plotz PH.Sherman JB, et al.Am J Hum Genet. 1994 Aug;55(2):305-13.Am J Hum Genet. 1994.PMID:8037209Free PMC article.
- [Phosphofructokinase (PFK)].Nakajima H.Nakajima H.Nihon Rinsho. 1995 May;53(5):1241-6.Nihon Rinsho. 1995.PMID:7602786Review.Japanese.
- [Molecular pathology and gene diagnosis of muscle glycogenosis].Suzuki Y.Suzuki Y.Nihon Rinsho. 1997 Dec;55(12):3302-6.Nihon Rinsho. 1997.PMID:9436455Review.Japanese.
Cited by
- Cancer-associated somatic mutations in human phosphofructokinase-1 reveal a critical electrostatic interaction for allosteric regulation of enzyme activity.Voronkova MA, Hansen HL, Cooper MP, Miller J, Sukumar N, Geldenhuys WJ, Robart AR, Webb BA.Voronkova MA, et al.Biochem J. 2023 Sep 13;480(17):1411-1427. doi: 10.1042/BCJ20230207.Biochem J. 2023.PMID:37622331Free PMC article.
- PFKM gene defect and glycogen storage disease GSDVII with misleading enzyme histochemistry.Auranen M, Palmio J, Ylikallio E, Huovinen S, Paetau A, Sandell S, Haapasalo H, Viitaniemi K, Piirilä P, Tyynismaa H, Udd B.Auranen M, et al.Neurol Genet. 2015 Jun 4;1(1):e7. doi: 10.1212/NXG.0000000000000007. eCollection 2015 Jun.Neurol Genet. 2015.PMID:27066546Free PMC article.
- Deciphering osteoarthritis genetics across 826,690 individuals from 9 populations.Boer CG, Hatzikotoulas K, Southam L, Stefánsdóttir L, Zhang Y, Coutinho de Almeida R, Wu TT, Zheng J, Hartley A, Teder-Laving M, Skogholt AH, Terao C, Zengini E, Alexiadis G, Barysenka A, Bjornsdottir G, Gabrielsen ME, Gilly A, Ingvarsson T, Johnsen MB, Jonsson H, Kloppenburg M, Luetge A, Lund SH, Mägi R, Mangino M, Nelissen RRGHH, Shivakumar M, Steinberg J, Takuwa H, Thomas LF, Tuerlings M; arcOGEN Consortium; HUNT All-In Pain; ARGO Consortium; Regeneron Genetics Center; Babis GC, Cheung JPY, Kang JH, Kraft P, Lietman SA, Samartzis D, Slagboom PE, Stefansson K, Thorsteinsdottir U, Tobias JH, Uitterlinden AG, Winsvold B, Zwart JA, Davey Smith G, Sham PC, Thorleifsson G, Gaunt TR, Morris AP, Valdes AM, Tsezou A, Cheah KSE, Ikegawa S, Hveem K, Esko T, Wilkinson JM, Meulenbelt I, Lee MTM, van Meurs JBJ, Styrkársdóttir U, Zeggini E.Boer CG, et al.Cell. 2021 Sep 2;184(18):4784-4818.e17. doi: 10.1016/j.cell.2021.07.038. Epub 2021 Aug 26.Cell. 2021.PMID:34450027Free PMC article.
- Glycogen storage diseases.Hannah WB, Derks TGJ, Drumm ML, Grünert SC, Kishnani PS, Vissing J.Hannah WB, et al.Nat Rev Dis Primers. 2023 Sep 7;9(1):46. doi: 10.1038/s41572-023-00456-z.Nat Rev Dis Primers. 2023.PMID:37679331Review.
- Lack of p62 Impairs Glycogen Aggregation and Exacerbates Pathology in a Mouse Model of Myoclonic Epilepsy of Lafora.Pellegrini P, Hervera A, Varea O, Brewer MK, López-Soldado I, Guitart A, Aguilera M, Prats N, Del Río JA, Guinovart JJ, Duran J.Pellegrini P, et al.Mol Neurobiol. 2022 Feb;59(2):1214-1229. doi: 10.1007/s12035-021-02682-6. Epub 2021 Dec 28.Mol Neurobiol. 2022.PMID:34962634Free PMC article.
Publication types
MeSH terms
Substances
Related information
LinkOut - more resources
Full Text Sources
Molecular Biology Databases